A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10948894



Internal ID6042954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23082578..23085867hg38UCSC Ensembl
Innerchr3:23082582..23085863hg38UCSC Ensembl
Outerchr3:23082574..23085871hg38UCSC Ensembl
chr3:23124069..23127358hg19UCSC Ensembl
Innerchr3:23124073..23127354hg19UCSC Ensembl
Outerchr3:23124065..23127362hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg383290
hg193290
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595558
Supporting Variants
SamplesNA19443
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10948894
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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